BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 10993286)

  • 1. Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model.
    Notarangelo LD; Giliani S; Mella P; Schumacher RF; Mazza C; Savoldi G; Rodriguez-Pérez C; Badolato R; Mazzolari E; Porta F; Candotti F; Ugazio AG
    Immunobiology; 2000 Aug; 202(2):106-19. PubMed ID: 10993286
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.
    Gilmour KC; Cranston T; Loughlin S; Gwyther J; Lester T; Espanol T; Hernandez M; Savoldi G; Davies EG; Abinun M; Kinnon C; Jones A; Gaspar HB
    Br J Haematol; 2001 Mar; 112(3):671-6. PubMed ID: 11260071
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Impaired IL-7 signaling may explain a case of atypical JAK3-SCID.
    Li J; Nara H; Rahman M; Juliana FM; Araki A; Asao H
    Cytokine; 2010 Feb; 49(2):221-8. PubMed ID: 19889552
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the gene for the IL-7 receptor result in T(-)B(+)NK(+) severe combined immunodeficiency disease.
    Puel A; Leonard WJ
    Curr Opin Immunol; 2000 Aug; 12(4):468-73. PubMed ID: 10899029
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
    Notarangelo LD; Giliani S; Mazza C; Mella P; Savoldi G; Rodriguez-Pérez C; Mazzolari E; Fiorini M; Duse M; Plebani A; Ugazio AG; Vihinen M; Candotti F; Schumacher RF
    Immunol Rev; 2000 Dec; 178():39-48. PubMed ID: 11213805
    [TBL] [Abstract][Full Text] [Related]  

  • 6. X-linked SCID and other defects of cytokine pathways.
    Uribe L; Weinberg KI
    Semin Hematol; 1998 Oct; 35(4):299-309. PubMed ID: 9801259
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cytokines and immunodeficiency diseases.
    Leonard WJ
    Nat Rev Immunol; 2001 Dec; 1(3):200-8. PubMed ID: 11905829
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The amino terminus of JAK3 is necessary and sufficient for binding to the common gamma chain and confers the ability to transmit interleukin 2-mediated signals.
    Chen M; Cheng A; Chen YQ; Hymel A; Hanson EP; Kimmel L; Minami Y; Taniguchi T; Changelian PS; O'Shea JJ
    Proc Natl Acad Sci U S A; 1997 Jun; 94(13):6910-5. PubMed ID: 9192665
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Unexpected and variable phenotypes in a family with JAK3 deficiency.
    Frucht DM; Gadina M; Jagadeesh GJ; Aksentijevich I; Takada K; Bleesing JJ; Nelson J; Muul LM; Perham G; Morgan G; Gerritsen EJ; Schumacher RF; Mella P; Veys PA; Fleisher TA; Kaminski ER; Notarangelo LD; O'Shea JJ; Candotti F
    Genes Immun; 2001 Dec; 2(8):422-32. PubMed ID: 11781709
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.
    Fuchs S; Rensing-Ehl A; Erlacher M; Vraetz T; Hartjes L; Janda A; Rizzi M; Lorenz MR; Gilmour K; de Saint-Basile G; Roifman CM; Cheuk S; Gennery A; Thrasher AJ; Fuchs I; Schwarz K; Speckmann C; Ehl S
    Eur J Immunol; 2014 Oct; 44(10):3129-40. PubMed ID: 25042067
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene.
    Villa A; Sironi M; Macchi P; Matteucci C; Notarangelo LD; Vezzoni P; Mantovani A
    Blood; 1996 Aug; 88(3):817-23. PubMed ID: 8704236
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.
    Brugnoni D; Notarangelo LD; Sottini A; Airò P; Pennacchio M; Mazzolari E; Signorini S; Candotti F; Villa A; Mella P; Vezzoni P; Cattaneo R; Ugazio AG; Imberti L
    Blood; 1998 Feb; 91(3):949-55. PubMed ID: 9446656
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Human lymphoid development in the absence of common γ-chain receptor signaling.
    Kohn LA; Seet CS; Scholes J; Codrea F; Chan R; Zaidi-Merchant S; Zhu Y; De Oliveira S; Kapoor N; Shah A; Abdel-Azim H; Kohn DB; Crooks GM
    J Immunol; 2014 Jun; 192(11):5050-8. PubMed ID: 24771849
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.
    Russell SM; Tayebi N; Nakajima H; Riedy MC; Roberts JL; Aman MJ; Migone TS; Noguchi M; Markert ML; Buckley RH; O'Shea JJ; Leonard WJ
    Science; 1995 Nov; 270(5237):797-800. PubMed ID: 7481768
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cytokine-mediated signalling and early defects in lymphoid development.
    Giliani S; Mella P; Savoldi G; Mazzolari E
    Curr Opin Allergy Clin Immunol; 2005 Dec; 5(6):519-24. PubMed ID: 16264332
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
    Notarangelo LD; Mella P; Jones A; de Saint Basile G; Savoldi G; Cranston T; Vihinen M; Schumacher RF
    Hum Mutat; 2001 Oct; 18(4):255-63. PubMed ID: 11668610
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutant gammac chain from a patient with typical phenotype of X-linked severe combined immunodeficiency (SCID) has partial signalling function for mediating IL-2 and IL-4 receptor action.
    Kumaki S; Ochs HD; Kuropatwinski KK; Konno T; Timour MS; Cosman D; Baumann H
    Clin Exp Immunol; 1999 Feb; 115(2):356-61. PubMed ID: 9933465
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Jak3 and the pathogenesis of severe combined immunodeficiency.
    O'Shea JJ; Husa M; Li D; Hofmann SR; Watford W; Roberts JL; Buckley RH; Changelian P; Candotti F
    Mol Immunol; 2004 Jul; 41(6-7):727-37. PubMed ID: 15220007
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The role of Jak3 in lymphoid development, activation, and signaling.
    Thomis DC; Berg LJ
    Curr Opin Immunol; 1997 Aug; 9(4):541-7. PubMed ID: 9287175
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The common γ-chain cytokine receptor: tricks-and-treats for T cells.
    Waickman AT; Park JY; Park JH
    Cell Mol Life Sci; 2016 Jan; 73(2):253-69. PubMed ID: 26468051
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.